orofaciodigital syndrome VIII

Summary

orofaciodigital syndrome VIII (MONDO:0010336) is a disease. A subtype of orofaciodigital syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		20	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	orofaciodigital syndrome VIII
Mondo ID	MONDO:0010336
MeSH	C557820
OMIM	300484
Orphanet	2755
DOID	DOID:0060378
SNOMED CT	722106001
UMLS	C0796101
MedGen	208667
GARD	0004060
Is cancer (heuristic)	no

Also known as: OFD syndrome 8 · OFD8 · oral facial digital syndrome 8 · oral facial digital syndrome type 8 · oral-facial-digital syndrome type 8 · oral-facial-digital syndrome, Edwards type · orofaciodigital syndrome 8 · orofaciodigital syndrome type VIII · orofaciodigital syndrome VIII · orofaciodigital syndrome VIII, X-linked recessive · orofaciodigital syndrome, Edwards type

Disease family

This is a subtype of orofaciodigital syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › orofaciodigital syndrome › orofaciodigital syndrome VIII

Related subtypes (18): orofaciodigital syndrome X, orofaciodigital syndrome V, orofaciodigital syndrome type II, orofaciodigital syndrome III, orofaciodigital syndrome IV, orofaciodigital syndrome IX, orofaciodigital syndrome type 6, orofaciodigital syndrome VII, orofaciodigital syndrome XI, orofaciodigital syndrome type 14, orofaciodigital syndrome XV, orofaciodigital syndrome type 12, orofaciodigital syndrome 16, orofaciodigital syndrome 17, orofaciodigital syndrome 18, orofaciodigital syndrome 19, orofaciodigital syndrome 20, orofaciodigital syndrome 21

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.